Varaico: Literature-Extracted Genetic Variants

Gene:CENPN
Variant:p.Q43H

CENPN

28 papers

RefSeq Summary

The protein encoded by this gene forms part of the nucleosome-associated complex and is important for kinetochore assembly. It is bound to kinetochores during S phase and G2 and recruits other protein...

Pfam Domains

CENP-Naa 3–339UCSCKinetochore protein CHL4 like

Gene Aliases

HGNC Name

centromere protein N

HGNC Previous Symbol

C16orf60

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001100624.3
p.Q43H
c.129G>C
Surrounding Variants
1 paper
NM_001100624.3
p.Q43H
c.129G>T
2 papers
NM_001100624.3
p.E7A
c.20A>C
2 papers
NM_001100624.3
p.E7K
c.19G>A
1 paper
NM_001100624.3
p.T4A
c.10A>G
2 papers
NM_001100624.3
p.E3A
c.8A>C
2 papers
NM_001100624.3
p.E3K
c.7G>A
1 paper
NM_001100624.3
p.E84G
c.251A>G
2 papers
NM_001100624.3
p.E84D
c.252A>C
2 papers
NM_001100624.3
p.E84D
c.252A>T
1 paper
NM_001100624.3
p.S107L
c.320C>T
1 paper
NM_001100624.3
p.Y160*
c.480C>A
1 paper
NM_001100624.3
p.Y160*
c.480C>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."